Genetic Diarrheal Disease Discovered in Infants

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UCLA researchers have discovered a new kind of diarrheal disease in infants.

A rare defect in the NEUROG3 gene causes the disease, report Jiafang Wang, Martín G. Martín, MD, and colleagues. They call the disease enteric anendocrinosis, and describe the symptoms in three children born with the defective gene.

The children born with the defective gene had no hormone-making cells in their small intestine. Because these hormonal signals are needed for proper gut function, they have extreme diarrhea when they eat or drink anything other than plain water. They must be fed intravenously.

The same defective gene also affects the growth of insulin-making beta cells in the pancreas. The two children who survived infancy -- one died from an infection -- developed type 1 diabetes when they were 8 years old.

Martín says that one day stem cell therapies may be able to correct this problem. If so, the same treatment might help kids with a more common problem: type 1 diabetes.

"Since patients with enteric anendocrinosis develop type 1 diabetes, we hope stem cell researchers can apply the knowledge from this discovery to the role of NEUROG3 in the development of insulin-producing islet cells in the pancreas," Martín says, in a news release.

Moreover, the finding may lead to a new understanding of other diarrheal diseases -- such as diarrhea-predominant irritable bowel syndrome.

The study appears in the July 20 issue of The New England Journal of Medicine.

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By Daniel J. DeNoon, reviewed by Louise Chang, MD

SOURCES: Wang, J. The New England Journal of Medicine, July 20, 2006; vol 355: pp 270-280. News release, University of California, Los Angeles.